Ataxia heredo-degenerativa associada a hipoacusia
Arquivos de Neuro-Psiquiatria, 1964 São estudados três irmãos, respectivamente com 16, 8 e 6 anos de idade, todos do sexo masculino, com ataxia heredo-degenerativa associada, em dois dêles, a hipoacusia. Nos antecedentes há referência a moléstia semelhante em um avô e um tio-avô.
José Antonio Levy, Ehrenfried O. Wittig
doaj +1 more source
Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]
, 2016 Friedreich’s ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. We
Ho, SL +7 more
core +1 more source
Cell Reports, 2017 Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition.
Monica Benini +10 more
doaj +1 more source
Pharmacological treatments for Friedreich ataxia [PDF]
, 2016 BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties.
Brassington, R +4 more
core
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. [PDF]
, 2011 Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 ...
ACQUAVIVA, Fabio +13 more
core +1 more source
Spongionella secondary metabolites protect mitochondrial function in cortical neurons against oxidative stress [PDF]
, 2014 Accepted: 8 January 2014 This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Acknowledgments
Alfonso, Amparo +9 more
core +4 more sources
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich\u27s ataxia. [PDF]
, 2013 BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Belmonte, Matthew +5 more
core +1 more source
Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich [PDF]
, 2018 Introducción: la Ataxia de Friedreich es una enfermedad genética de herencia autosómica recesiva, caracterizada por la dificultad en el movimiento. La causa es la mutación en el gen que codifica para una proteína mitocondrial denominada frataxina (Fxn ...
Balbi, Noelia +5 more
core
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]
, 2013 A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core